AP-4-associated hereditary spastic paraplegia is a group of slowly-progressing neurodegenerative disorders that typically present with global developing hold-up, modest to serious intellectual special needs, impaired/absent speech, small head size, seizures, and progressive motor symptoms. Low muscle mass tone in early stage develops into high muscular tissue tone, resulting in spasticity of the legs that leads to the failure to stroll and wheelchair reliance. Most children with AP-4-associated HSP have: a saggy appearance in infancy as a result of low muscular tissue tone; increasing spasticity and paralysis in the lower arm or legs starting in very early childhood years; delayed motor growth; bad or missing speech development; moderate to serious intellectual disability; microcephaly; seizures consisting of constant seizures in the setting of fever.
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